Canonical Allele Identifier: CA2586971013
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518914_202518915del , CM000664.2:g.202518914_202518915del GRCh38
NC_000002.11:g.203383637_203383638del , CM000664.1:g.203383637_203383638del GRCh37
NC_000002.10:g.203091882_203091883del NCBI36
NG_009363.1:g.147588_147589del , LRG_712:g.147588_147589del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.714_715del MANE Select ENSP00000363708.4:p.Asn239PhefsTer16
ENST00000638587.1:c.645_646del ENSP00000491062.1:p.Asn216PhefsTer16
ENST00000374574.2:c.714_715del ENSP00000363702.2:p.Asn239PhefsTer16
ENST00000374580.8:c.714_715del ENSP00000363708.4:p.Asn239PhefsTer16
NM_001204.6:c.714_715del , LRG_712t1:c.714_715del NP_001195.2:p.Asn239PhefsTer16
XM_011511687.1:c.714_715del XP_011509989.1:p.Asn239PhefsTer16
XM_011511688.1:c.714_715del XP_011509990.1:p.Asn239PhefsTer16
NM_001204.7:c.714_715del MANE Select NP_001195.2:p.Asn239PhefsTer16
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